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smaniches
by smaniches

HPO Phenotype Lookup

lookup_phenotype
Read-onlyIdempotent

Retrieve a phenotype term from the Human Phenotype Ontology with its definition, synonyms, parent terms, and associated disease annotations from OMIM and Orphanet.

Instructions

Retrieve an HPO phenotype term with associated disease annotations.

Returns:

  • Phenotype label, definition, synonyms

  • Diseases annotated with this phenotype (from HPO + OMIM + Orphanet)

  • Parent phenotype terms

Example: lookup_phenotype(hpo_id='HP:0001250') returns the Seizure phenotype with ~400 associated diseases.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
paramsYes

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
resultYes
Behavior4/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

The description is consistent with readOnlyHint and idempotentHint annotations, confirming a safe lookup operation. It adds transparency by specifying what data is returned (label, definition, synonyms, diseases, parent terms), going beyond the annotations.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness5/5

Is the description appropriately sized, front-loaded, and free of redundancy?

The description is concise, front-loaded with the main purpose, uses bullet points for clarity, and includes a helpful example. Every sentence serves a purpose.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness4/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Given the presence of an output schema and annotations, the description sufficiently covers the tool's behavior for a lookup operation. It could mention error handling or pagination, but the current detail is adequate.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters3/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

The input schema already provides descriptions for all three parameters, so the description adds limited extra meaning. The example illustrates the hpo_id format, but overall the schema carries the semantic load.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose4/5

Does the description clearly state what the tool does and how it differs from similar tools?

The description clearly states the tool retrieves an HPO phenotype term with disease annotations, specifying the action (retrieve) and resource (HPO term). It distinguishes from siblings like lookup_disease implicitly by focusing on phenotypes, but does not explicitly contrast them.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines3/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

The description implies usage context by mentioning HPO and OMIM/Orphanet sources, but provides no explicit guidance on when to use this tool vs alternatives like lookup_disease or get_gene_phenotype_profile.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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